ID   GM01610
AC   CVCL_1D23
SY   GM-1610
DR   CLO; CLO_0031557
DR   BioSample; SAMN00806971
DR   Coriell; GM01610
DR   Wikidata; Q54836946
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=32521500;
CC   Sequence variation: Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Arg611His (c.1832G>A); ClinVar=VCV000045442; Zygosity=Heterozygous (PubMed=32521500).
CC   Sequence variation: Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Trp648Ter (c.1944G>A); ClinVar=VCV000004511; Zygosity=Heterozygous (PubMed=32521500).
CC   Sequence variation: Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Gly695Val (c.2084G>T); ClinVar=VCV000004510; Zygosity=Heterozygous (PubMed=32521500).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C35133; Wolfram syndrome
DI   ORDO; Orphanet_3463; Wolfram syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1D26 ! GM01795
SX   Female
AG   13Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
CH   CVCL_YT29 ! IMBPASi001-A
//
RX   PubMed=32521500; DOI=10.1016/j.scr.2020.101858;
RA   Grzela, Dawid Pawel
RA   Marciniak, Beata
RA   Pulaski, Lukasz
RT   "Characterization of an induced pluripotent stem cell line
RT   (IMBPASi001-A) derived from fibroblasts of a patient affected by
RT   Wolfram syndrome.";
RL   Stem Cell Res. 46:101858-101858(2020).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur E.
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//